Myofibroma of the pinna: a case report and review of the literature.

BACKGROUND: Myofibromas are rare mesenchymal tumors with a predilection for the head, neck, and oral cavity. Primarily affecting infants and young children, these tumors typically manifest as superficial painless nodules. Diagnosis is confirmed through histopathological examination of a biopsy, revealing nodules characterized by spindle cell proliferation. To our knowledge, only two cases of pinna myofibroma have been previously reported in the literature. CASE PRESENTATION: Here, we present the case of a three-year-old male who developed a myofibroma of the left auricle following trauma to the area one year earlier. The patient underwent surgical resection without any postoperative complications. The patient later returned with a lesion consistent with hypertrophic scar. CONCLUSIONS: This study aims to provide a comprehensive review of the clinical presentation, histopathologic and immunohistochemical features, and surgical management of this unique case of myofibroma of the pinna.

Postoperative Upper Airway Volume Measurements Among Children With Craniofacial Abnormalities.

OBJECTIVE: To measure postoperative airway volumes among patients with craniofacial abnormalities and compare them to normative values. STUDY DESIGN: Retrospective, comparative study. SETTING: Academic Medical Center. METHODS: Retrospective analysis of imaging of children with craniofacial abnormalities treated at NYU Langone Health from January 2013 to February 2021. Upper airway volumes postcraniofacial surgery were measured using 3D processing software (Dolphin 3D, version 11.95). These values were compared with published normative values. RESULTS: Twenty-one subjects were identified and compared to normative values. The postoperative oropharyngeal volumes were on average 43.7% smaller than the normative values (P < .001), and the total upper airway volumes were 31.6% smaller (P = .003). No significant differences were observed in the nasopharyngeal or hypopharyngeal volumes of the study cohort compared to the normative data. Among children ages 12 to 17 years (n = 13), the mean oropharyngeal volumes were 47.6% smaller than normal (P < .001), and the mean total upper airway volumes were 34.6% smaller than normal (P < .001). Among children ages 7 to 11 years (n = 8), the mean oropharyngeal volumes were 35.1% smaller than normal (P = .049), but no difference in mean total upper airway volume was observed. CONCLUSION: In children with craniofacial anomalies, postoperative airway volumes remain lower than normative values. However, even a slight increase in airway volume can yield a substantial increase in flow rate. 3D airway evaluations are a valuable tool for surgical planning and analysis and can help with optimizing airway dynamics.

A New Approach for Diagnosis and Surveillance of Infantile Subglottic Hemangioma in the Era of Propranolol Use: A Case Series.

OBJECTIVE: To report our institutional experience in diagnosing and surveilling patients with infantile subglottic hemangioma (SGH) using in-office flexible fiberoptic laryngoscopy (FFL) with video technology, without requiring operative endoscopy in the era of propranolol use. METHODS: A retrospective case series was conducted on 4 children diagnosed with SGH between 2016 and 2022 at our institution. RESULTS: Awake FFL with video technology provided adequate visualization of SGH lesions for diagnosis, without any complications. Serial examinations of the airway were performed in the outpatient setting and each SGH gradually regressed, with marked improvement in respiratory symptoms within 48 hours of oral propranolol initiation. CONCLUSION: Our findings showed that in select patients, FFL with video technology can successfully identify SGH lesions without general anesthesia exposure. FFL may be used as a low-risk screening tool for propranolol therapy initiation in some patients, but operative endoscopy should remain the gold standard procedure for others. By utilizing FFL in this manner, it is possible to diagnose SGH lesions and start propranolol therapy without exposing all patients to the risks of operative endoscopy.

Measurement of Upper Airway Volume in Children with Craniofacial Abnormalities.

OBJECTIVE(S): Previous literature has established a high prevalence of upper airway obstruction in children with craniofacial abnormalities. This study aims to perform quantitative airway volume measurements in patients with craniofacial abnormalities and compare them to age and sex-matched controls. METHODS: We performed a retrospective review of the records of all children with craniofacial abnormalities who underwent head-and-neck computed tomography (CT) imaging at a single tertiary-care center between 1/1/13 and 12/31/20 using the ICD-10 codes Q75.1, Q75.4, and Q87.0. These patients were then matched by age and sex to patients with isolated craniosynostosis (Q75.0). CT scans were imported into Dolphin Imaging software, and airway volumes were measured for the nasal cavity, nasopharynx, oropharynx, and hypopharynx. The primary outcome was the total airway volume, defined as the sum of these measurements. RESULTS: Thirty subjects with craniofacial syndromes were matched to 30 patients with isolated craniosynostosis (controls). In both groups, 18 subjects (60%) were male (p = 0.99). The average ages for syndromic patients and controls were 12.1 and 12.9 months, respectively (p = 0.84). On average, the total airway volumes of syndromic patients were 25% lower than those of controls (p = 0.02). Syndromic patients had 39% smaller nasal cavity volumes (p < 0.001) and 32% smaller nasopharyngeal volumes (p < 0.01). Significant volume differences were not observed for the oropharynx or hypopharynx. CONCLUSION: We present a unique technique to measure airway volumes in patients with craniofacial abnormalities. These findings will help practitioners to further understand the anatomy and pathophysiology of disturbed breathing in children with craniofacial syndromes. LEVEL OF EVIDENCE: III Laryngoscope, 2023.

Mal de Débarquement Syndrome in Children: A Case Series.

Currently, mal de débarquement syndrome (MdDS) has been reported only among adults. This case series describes 3 pediatric patients with MdDS. MdDS presentation in children is similar to that of adults, although the frequency of comorbid conditions is greater. Diagnostic delays are common and likely due to under-recognition of MdDS among children.

Off-Label Use of Ciprofloxacin/Dexamethasone Drops in the Pediatric Upper Airway: Case Presentation and Review of Adverse Effects.

OBJECTIVE: This report describes a new observation of hyperglycemia in a child with Type 1 diabetes after off-label use of otic ciprofloxacin/dexamethasone drops in the nasal passage and reviews previous reports of adverse endocrine effects from intranasal corticosteroids in pediatric patients. METHODS: We describe the clinical case and conducted a literature review of MEDLINE (PubMed) and EMBASE. RESULTS: A 9-month-old female with a history of Type 1 diabetes who underwent unilateral choanal atresia repair was started on 1 week of ciprofloxacin 0.3%/dexamethasone 0.1% otic drops twice a day for choanal obstruction with granulation tissue. While the patient's airway patency improved, average daily blood glucose increases by 40 to 50 points were noted on the patient's continuous glucose monitor. The hyperglycemia resolved within 2 days after switching to mometasone furoate 0.05% spray. We also review 21 pediatric otolaryngology cases of iatrogenic Cushing's syndrome associated with on- and off-label use of topical steroid suspensions in the airway. Patients ranged from 3 months to 16 years in age and used doses of 50 µg/day to 2 mg/day. CONCLUSION: This is the first reported pediatric case of increased blood glucose levels associated with intranasal steroid suspensions, to the best of our knowledge. Counseling families on precise dose administration and potential endocrine disturbances is critical when prescribing these medications for off-label use in infants and small children, particularly among patients with underlying endocrine disorders such as diabetes.

Food-seeking behavior is triggered by skin ultraviolet exposure in males.

Sexual dimorphisms are responsible for profound metabolic differences in health and behavior. Whether males and females react differently to environmental cues, such as solar ultraviolet (UV) exposure, is unknown. Here we show that solar exposure induces food-seeking behavior, food intake, and food-seeking behavior and food intake in men, but not in women, through epidemiological evidence of approximately 3,000 individuals throughout the year. In mice, UVB exposure leads to increased food-seeking behavior, food intake and weight gain, with a sexual dimorphism towards males. In both mice and human males, increased appetite is correlated with elevated levels of circulating ghrelin. Specifically, UVB irradiation leads to p53 transcriptional activation of ghrelin in skin adipocytes, while a conditional p53-knockout in mice abolishes UVB-induced ghrelin expression and food-seeking behavior. In females, estrogen interferes with the p53-chromatin interaction on the ghrelin promoter, thus blocking ghrelin and food-seeking behavior in response to UVB exposure. These results identify the skin as a major mediator of energy homeostasis and may lead to therapeutic opportunities for sex-based treatments of endocrine-related diseases.

Differences in craniofacial morphology between platybasic and nonplatybasic patients with velopharyngeal dysfunction and control subjects.

INTRODUCTION: This study aimed to identify the characteristics of cranial-base morphology in platybasic and nonplatybasic patients with palatal anomalies and velopharyngeal dysfunction (VPD) compared with control subjects to investigate structural factors related to craniofacial morphology that affect the nasopharyngeal space and may influence velopharyngeal function, and to develop precise treatments for specific patients with VPD. METHODS: Three hundred eighty-six patients with VPD and various palatal anomalies were studied retrospectively. The control group included 126 healthy patients with normal speech. Lateral cephalometric images assessed craniofacial morphology. RESULTS: Nonplatybasic patients and control subjects had larger SNA, S-Ba-Ptm, and N-Ba-PP angles (in the craniomaxillary complex), and platybasic patients had larger nasopharyngeal ANS-Ptm-Ve and Ba-S-Ptm angles and longer Ve-T and Ve-Ba distances than the nonplatybasic patients. All study patients had larger ANB, Gn-Go-Ar, and PP-MP angles (in the craniomandibular complex). Nonplatybasic patients had smaller Ba-SN angles than platybasic patients and controls because of more acute N-S-Ptm angle. Among the nonplatybasic patients, Ve-T length tended to be shorter (with no significant difference between groups) and located more inferiorly (because of the smallest ANS-Ptm-Ve angle) in relation to the maxilla. Thus, the nasopharynx was narrower horizontally but longer vertically than in patients with platybasia. CONCLUSIONS: Cranial-base flexure influences the shape of the skull base and facial-skeletal structure and may alter the pharyngeal space between them. This finding should help improve preoperative planning regarding the effect of the pharyngeal flap height relative to the nasopharynx and oropharynx ratio that affects surgical outcomes, such as resonance and residual VPD. In patients with Class III malocclusion and maxillary constriction, careful planning of presurgical orthodontic treatment is needed in maxillary advancement procedures. Orthodontic and surgical collaboration can help prevent postoperative VPD, especially in platybasic patients.

Association between superior labial frenum and maxillary midline diastema - a systematic review.

BACKGROUND: Pediatric otolaryngologists have seen an increased focus on upper lip frenum as a possible culprit for feeding difficulties and the development of maxillary midline diastema (MMD). This increase may be encouraged by parents' exposure to medical advice over the internet about breastfeeding and potential long-term aesthetic concerns for their children. Subsequently, there has been increased pressure on pediatric otolaryngologists to perform superior labial frenectomies. There has been a reported 10-fold increase in frenectomies since the year 2000. However, there is no consensus within the literature regarding the benefit of superior labial frenectomy in preventing midline diastema. OBJECTIVE: To provide physicians and parents with the most updated information by systematically reviewing the available literature for the association between superior labial frenum and midline diastema. METHODS: A literature search was performed in MEDLINE (PubMed), EMBASE, Web of Science, the Cochrane Library and Dental and Oral Sciences Source (DOSS). Using the Covidence platform, a systematic review was conducted. The initial 314 articles identified underwent systematic review and 11 studies were included in the final review. RESULTS/DISCUSSION: Available data, primarily from the dental literature, showed that two subtypes of frenum: papillary and papillary penetrating frenum, are associated with maxillary midline diastema. Superior labial frenectomy should be delayed until permanent lateral incisors have erupted, as this can spontaneously close the physiological MMD. Current literature recommends against frenectomy before addressing the diastema with orthodontics, which helps to prevent diastema relapse. It is also imperative to rule out other odontogenic and oral cavity causes of diastema, such as thumb sucking, dental agenesis, and other causes. Online information may not always be fully representative and should be interpreted in the full context of the patient's medical history before referral for surgical intervention.

Skin exposure to UVB light induces a skin-brain-gonad axis and sexual behavior.

Ultraviolet (UV) light affects endocrinological and behavioral aspects of sexuality via an unknown mechanism. Here we discover that ultraviolet B (UVB) exposure enhances the levels of sex-steroid hormones and sexual behavior, which are mediated by the skin. In female mice, UVB exposure increases hypothalamus-pituitary-gonadal axis hormone levels, resulting in larger ovaries; extends estrus days; and increases anti-Mullerian hormone (AMH) expression. UVB exposure also enhances the sexual responsiveness and attractiveness of females and male-female interactions. Conditional knockout of p53 specifically in skin keratinocytes abolishes the effects of UVB. Thus, UVB triggers a skin-brain-gonadal axis through skin p53 activation. In humans, solar exposure enhances romantic passion in both genders and aggressiveness in men, as seen in analysis of individual questionaries, and positively correlates with testosterone level. Our findings suggest opportunities for treatment of sex-steroid-related dysfunctions.

Does Ostmann's fat pad size correlate with development of chronic otitis media in children?

OBJECTIVE: To compare Ostmann's fat pad (OFP) size between healthy ears and ears with chronic otitis media with cholesteatoma (COMwC) in children, to assess its role in the disease. METHODS: MRI scans of 29 children with unilateral COMwC with conductive hearing loss were used to measure OFP, represented by the maximal diameter of the high intensity area medial to the tensor veli palatini muscle (TVP): M1. A reference diameter was defined from the medial border of OFP reaching the medial border of the medial pterygoid muscle: M2. Values of M1, M2 and the ratio of M1:M2 were compared between the healthy and pathological ear in each patient. RESULTS: No difference in OFP size was observed between healthy (H) ears (mean M1H:M2H ratio 0.72 ± 2.28) compared to ears with COMwC pathology (P) (mean M1P:M2P ratio .68 ± 1.57; P = .943) in children, suggesting that OFP size abnormalities do not have a role in pediatric COMwC. CONCLUSION: OFP size was not correlated to the development of unilateral COMwC in children.

Endoscopic marsupialization of nasolacrimal duct cysts under topical anaesthesia: 5 years of a single institute experience.

OBJECTIVE: To present the outcomes of neonatal nasolacrimal duct cysts treated through endoscopic intranasal marsupialization under topical anaesthesia. METHODS: A retrospective study of 19 infants diagnosed with congenital nasolacrimal duct cyst, with or without dacryocystocele, diagnosed and treated between March 2015 through March 2020. Data were extracted for descriptive purposes and included: birth weight, main presenting symptom, stertor or dyspnoea, unilateral or bilateral occurrence. Follow-up one month after intervention included recurrence of symptoms, physical examination and fibreoptic naso-endoscopy. RESULTS: Nineteen infants with intranasal cyst were presented to our department at the age of 1 day. Four-teen infants had unilateral and 5 infants had bilateral intranasal cysts. There were 8 boys and 11 girls. Mean gestational age at birth was 39 weeks, mean birth weight was 3351 g. 42.1% of infants presented with dacryocystocele, 31.5% with stertor, and 26.3% with dyspnoea. 80% of infants with bilateral cysts presented with dyspnoea. Follow up ranged from 6 to 48 months, no recurrence of symptoms was reported. CONCLUSION: Intranasal endoscopic marsupialization under topical anaesthesia is a successful, safe, low cost procedure for treating neonatal nasolacrimal duct cysts while avoiding general anaesthesia for infants.

[INNOVATIONS IN RESEARCH OF HEREDITARY DEAFNESS].

INTRODUCTION: Deafness is the most common sensory disability in humans affecting all aspects of life. Approximately 50% of congenital deafness is hereditary and about half of genetic deafness is still unsolved. To date, more than 150 genes are known to cause hearing loss worldwide, with specific genes contributing to deafness in distinct populations. Of these, more than 20 genes are involved in deafness among the Jewish Israeli hearing-impaired population. The most common gene in many worldwide populations, including Israel, is GJB2, which encodes the connexin 26 protein. The second most common gene among Jews is TMC1, with most pathogenic variants found only among Jews of Moroccan origin. Most other pathogenic variants found in the Jewish population are origin-specific and not found in other Jewish ethnic groups or in other worldwide populations. In patients where hereditary deafness is suspected, known variants in the specific ethnicity are routinely examined. In Israel, the GJB2 gene is screened in all cases of hereditary deafness and the TMC1 gene is screened in deaf persons of Jewish Moroccan origin. In cases where no variant is found in a known gene, more comprehensive diagnostic tests should be used. Since the beginning of the deep sequencing era, less than a decade ago, the number of deafness-related genes in the Jewish population has increased by threefold. Identifying the pathogenic variant makes it possible to study molecular pathogenesis, to anticipate and understand the prognosis, to calculate probability of concomitant morbidity, to offer prenatal diagnosis, prevent recurrence of deafness in the family and early rehabilitation. Currently, cochlear implant offers the greatest chance for rehabilitation. The hope is that understanding the molecular pathogenesis will in the future lead to personalized medical treatment. We review the genetics of deafness, with an emphasis on the Jewish population in Israel, new diagnostic methods and suggest a diagnostic algorithm and future treatment methods.